Dilated Cardiomyopathy–Associated Skeletal Muscle Actin (ACTA1) Mutation R256H Disrupts Actin Structure and Function and Causes Cardiomyocyte Hypocontractility

The authors demonstrated that a skeletal muscle actin mutation potently caused multiple defects in actin function at the atomic and molecular scales, and it functions in a dominant fashion, leading to cardiomyocyte contractile defects.